CDKL5 Proband Entry
Entry ID: cp331
Systematic name: c.99+5G>A
Protein name: p.Ala23Asnfs*3
Alternate name(s): intronic variation (r.65_99del, exon 3 skipping)
Mutation type: splicing variant
Domain: ATP binding region
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset epilepsy with severe intellectual disability
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: not specified, MECP2 negative
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152
Publication ID: 2
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.[=/99+5G>A] | p.[=/Ala23Asnfs*3] | Not Rett syndrome - encephalopathy and early-onset seizures | Male | 20602487 Masliah-Plachon et al (2010) | cp140 |
Displaying a total number of 1 proband entries.